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Akademický článek

The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.

Autor: Pardo V; Thyroid Unit (LIM 25), University of São Paulo Medical School, Av. Dr. Arnaldo 455-4A, São Paulo, SP, Brazil., Vono-Toniolo J, Rubio IG, Knobel M, Possato RF, Targovnik HM, Kopp P, Medeiros-Neto G

Publikováno v: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2009 Aug; Vol. 94 (8), pp. 2938-44. Date of Electronic Publication: 2009 Jun 09.

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Akademický článek

A molecular analysis and long-term follow-up of two siblings with severe congenital hypothyroidism carrying the IVS30+1G>T intronic thyroglobulin mutation.

Autor: Rubio IG; University of São Paulo Medical School, SP, Brazil. ilearubi@usp.br, Galrao AL, Pardo V, Knobel M, Possato RF, Camargo RR, Ferreira MA, Kanamura CT, Gomes SA, Medeiros-Neto G

Publikováno v: Arquivos brasileiros de endocrinologia e metabologia [Arq Bras Endocrinol Metabol] 2008 Nov; Vol. 52 (8), pp. 1337-44.

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